Diagnosis of
Niemann-Pick
Disease
Is a child you know experiencing some of these symptoms?
Abdominal enlargement; Enlarged spleen or liver; Jaundice following birth; Unusual shortness of breath; Repeated lung infections; Cherry red spot inside the eye; Vertical eye movement difficulties; Progressive loss of early motor skills; Feeding and swallowing difficulties; Learning problems; Sudden loss of muscle tone; Slurred speech; Seizures; Hypersensitivity to touch.
These symptoms may be an indication of Niemann-Pick Disease. Chances are you haven't heard much about Niemann-Pick Disease. It's a rare disease, but maybe not as rare as we think as it is difficult to diagnose. These pages provide information about NPD, it's diagnosis and treatment, and the work that NNPDF is conducting to fund research and support families affected by Niemann-Pick Disease.
All types of Niemann-Pick Disease are autosomal recessive, which means
that children with the disease have two copies of the abnormal
gene. Each parent carries one copy of the abnormal gene without
having any signs of the disease themselves. Siblings
of the parents may also be carriers of the abnormal gene.
When both parents are carriers of the abnormal
gene, there is:
a 1 in 4 chance that
a child will have the disease
a 1 in 2 chance that
a child will be a carrier
a
1 in 4 chance that a child will not have the disease
and will not be a carrier
Carrier detection testing for all families
is not yet reliable.
The mutations for Types A and B have been
extensively studied, particularly among the Ashkenazi Jewish
population, and DNA tests for these forms of Niemann-Pick
Disease are available. Antenatal diagnosis (diagnosis
in the fetus) of Niemann-Pick Disease is available in a limited
number of centers.
Dr. Wenda Greer of Dalhousie University
has identified the genetic mutation related to Type D (now
called the Nova Scotia variant of NPC). Carrier detection
tests can be conducted for this mutation.
Carrier detection is possible for other
families only after their specific mutation is identified.
See the Diagnosis page for more details about genetic testing.
Follow the links on the side menu or the drop-down menu above to learn more about diagnosis and treatment of Niemann-Pick Disease Type A (NPA), Type B (NPB), and Type C (NPC).
Updated 12/10/2008, CWV
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